背景:肺泡蛋白沉积症是一种非常罕见的弥漫性肺疾病,其特征是由于肺泡巨噬细胞清除表面活性剂而导致肺泡间隙中无定形和高碘酸席夫氏阳性脂蛋白物质的积累。确定了三种主要类型:自身免疫性,继发性和先天性。先前已报道肺泡蛋白沉积症与几种全身性自身免疫性疾病有关。因此,我们介绍了第一例与重症肌无力相关的肺泡蛋白沉积症。病例:一名27岁的女性患者,前吸烟者,2020年,劳累时出现呼吸困难。胸部X线检查发现弥漫性对称肺泡混浊。排除了肺部感染,特别是COVID-19感染。胸部扫描显示“疯狂铺路”模式。支气管肺泡灌洗显示玫瑰色液体,带有颗粒状无细胞嗜酸性物质周期性酸-希夫阳性。根据肺活检结果,她被诊断为肺泡蛋白沉积症。粒细胞巨噬细胞集落刺激因子自身抗体阴性。九个月后,她被诊断为球血清阴性重症肌无力,经重复神经刺激的神经肌电图检查证实,斜方肌和脊髓肌的振幅显着下降。她接受了吡啶斯的明治疗,口服皮质类固醇和硫唑嘌呤。鉴于患者呼吸状况恶化,进行了双侧全肺灌洗,症状部分缓解.因此,利妥昔单抗成功治疗了这种以前未报告的关联,包括改善呼吸困难,随访6个月时复视和肌肉疲劳。结论:本病例强调自身免疫性疾病与PAP的可能关联,这可能会加剧疾病进程,因为具体的治疗方法还不存在。因此,需要进一步的研究来建立明确的PAP管理指南,特别是当与自身免疫性疾病相关时。
Background: Pulmonary alveolar proteinosis is a very rare diffuse lung disease characterized by the accumulation of amorphous and periodic acid Schiff-positive lipoproteinaceous material in the alveolar spaces due to impaired surfactant clearance by alveolar macrophages. Three main types were identified: Autoimmune, secondary and congenital. Pulmonary alveolar proteinosis has been previously reported to be associated with several systemic auto-immune diseases. Accordingly, we present the first
case report of pulmonary alveolar proteinosis associated with myasthenia gravis.
Case: A 27-year-old female patient, ex-smoker, developed a dyspnea on exertion in 2020. The chest X-ray detected diffuse symmetric alveolar opacities. Pulmonary infection was ruled out, particularly COVID-19 infection. The chest scan revealed the \"crazy paving\" pattern. The bronchoalveolar lavage showed a rosy liquid with granular acellular eosinophilic material Periodic acid-Schiff positive. According to the lung biopsy results, she was diagnosed with pulmonary alveolar proteinosis. The granulocyte macrophage colony-stimulating factor autoantibodies were negative. Nine months later, she was diagnosed with bulbar seronegative myasthenia gravis, confirmed with the electroneuromyography with repetitive nerve stimulation showing significant amplitude decrement of the trapezius and spinal muscles. She was treated with pyridostigmine, oral corticosteroids and azathioprine. Given the worsening respiratory condition of the patient, a bilateral whole lung lavage was performed with a partial resolution of symptoms. Thus, this previously unreported association was treated successfully with rituximab, including improvement of dyspnea, diplopia and muscle fatigability at six months of follow-up. Conclusions: This
case emphasizes on the possible association of auto-immune disease to PAP, which could worsen the disease course, as the specific treatment does not exist yet. Hence, further studies are needed to establish clear-cut guidelines for PAP management, particularly when associated to auto-immune diseases.